ClinVar for MedGen (Select 78574) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 638159	NM_001321120.2(TBX4):c.402G>A (p.Trp134Ter)	TBX4 (W134*)	Single nucleotide variant (nonsense)	Aplasia/hypoplasia involving bones of the lower limbs +5 more	GPathogenic
Select item 599008	NM_001308093.3(GATA4):c.94G>C (p.Ala32Pro)	GATA4 (A32P)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4 +11 more	GUncertain significance
Select item 599007	NM_006494.4(ERF):c.1636C>T (p.Arg546Ter)	ERF (R546* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +11 more	GUncertain significance
Select item 374171	NM_133433.4(NIPBL):c.1811_1812del (p.Lys603_Ser604insTer)	NIPBL	Deletion (nonsense)	Cornelia de Lange syndrome 1 +9 more	GLikely pathogenic
Select item 267914	46;XY;t(9;14)(p21;q12)dn		Translocation	Bilateral lung agenesis +9 more	GUncertain significance
Select item 267803	46;X;t(X;10)(p11.2;q24.3)		Translocation	Clinodactyly +11 more	GUncertain significance
Select item 143044	NM_020745.4(AARS2):c.647dup (p.Cys218fs)	AARS2, POLR1C (C218fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 30940	NM_020745.4(AARS2):c.1774C>T (p.Arg592Trp)	POLR1C, AARS2 (R592W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic

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